What is Rett Syndrome?

If you are considering studying medicine or have a special interest in childhood diseases, you might have read about Rett Syndrome. A genetic disorder that only affects girls, Rett is a disorder of the nervous system that can begin for female infants as early as 6-18 months of age. Named for the Austrian doctor who first wrote about the illness in a medical journal in the 1960s, the disorder typically goes through four stages involving a significant loss of motor skills and language ability. It is an incurable illness caused by a genetic mutation that is usually random, not inherited. Although there is no cure for the disease, doctors, therapists, and teachers can work together to help patients and their families manage the symptoms as well as they can. It is considered part of the autism spectrum.

The Stages and Severity of Rett Syndrome

The four stages of the syndrome are generally referred to by number, or by the phrases early onset, rapid destructive, plateau, and late motor deterioration stages. Not all girls who have the syndrome develop it as early as 6-18 months, though this is sometimes when symptoms start to appear. Since a child can have normal development for a while and then develop symptoms, it is not always recognized right away or diagnosed accurately. Diagnosis may not always be easy because it is a relatively rare disorder, with only one case in ten to fifteen thousand live girl births. Although it only affects females, it does occur across races. The severity of the disorder and the pace of the regression of skills can vary from patient to patient. Current life expectancy for those with the disorder is typically in their 40s or even 50s.

Help in Managing the Syndrome

Sadly, there is no way to cure or reverse this illness, but research and funding has gone into finding better ways to treat the symptoms as well as looking into issues surrounding sound diagnosis methods. The kinds of specialists involved in diagnosis and ongoing treatment may include pediatricians, developmentalists, geneticists, pediatric neurologists, physical therapists, occupational therapists, and special education teachers, all of whom can play important roles in helping families and communities understand and support patients with the syndrome.

Various organizations are also involved in research and funding issues surrounding the syndrome, including the Eunice Kennedy Shriver National Institute of Child Health and Human Development and the National Institute of Mental Health. These places, along with children’s hospitals with an excellent reputation in neurology, can be good places to begin further research if you want to learn more about the disease.

The National Institute of Neurological Disorders and Stroke has prepared a helpful fact sheet that answers many basic questions about the syndrome and also provides more details on the stages of the illness and some of the difficult losses patients can expect to face. This is another excellent place to start in learning more about both the diagnosis and treatment of Rett Syndrome.

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